ClinVar Miner

Submissions for variant NM_017882.3(CLN6):c.307C>T (p.Arg103Trp) (rs201095412)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000595470 SCV000703152 uncertain significance not provided 2016-12-02 criteria provided, single submitter clinical testing
Invitae RCV001051368 SCV001215519 pathogenic Neuronal ceroid lipofuscinosis 2019-10-24 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 103 of the CLN6 protein (p.Arg103Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs201095412, ExAC 0.06%). This variant has been observed in individual(s) with neuronal ceroid lipofuscinosis (PMID: 18846690, 27903347). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 498240). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant disrupts the p.Arg103 amino acid residue in CLN6. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 21549341, 30561534). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Translational Research Program on Neuronal Ceroid Lipofuscinosis,Center for the Study of Inborn Errors of Metabolism RCV000678437 SCV000804303 pathogenic Neuronal ceroid lipofuscinosis 6 no assertion criteria provided research Late Infantile NCL / Kufs disease

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